ArticleScience advances2021
De novo ATP1A3 variants cause polymicrogyria.
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Article in Science advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16citing papers in PubMed
2.1field-weighted citation impact, top 12% of its field
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Clinical and Genetic Spectrum ofNeurology. Genetics · 2026Article
- Exacerbation of neuronal senescence after spinal cord injury: Role of the macrophage-derived transforming growth factor-β1-SMAD2 signaling axis.Neural regeneration research · 2026Article
- Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report.European heart journal. Case reports · 2026Article
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- Case Report: A case of Poirier-Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia.Frontiers in pediatrics · 2025Article
- Mogrol Regulates the Expression of ATPase Na+/K+ Transport Subunit 3, Inhibits Cardiomyocyte Apoptosis, and Plays a Protective Role Against Myocardial Infarction.Drug design, development and therapy · 2025Article
- Article
- ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress.Disease models & mechanisms · 2024Article
- Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.Neurology. Genetics · 2024Article
- Article
- Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.Brain : a journal of neurology · 2023Article
- The Phenotypic Continuum ofNeurology · 2022Review
- Disease mutations of human α3 NaPNAS nexus · 2022Article
- Genetically altered animal models for ATP1A3-related disorders.Disease models & mechanisms · 2021Article
- Deletion ofCold Spring Harbor molecular case studies · 2021Article
- The Genetic Landscape of Polymicrogyria.Annals of Indian Academy of NeurologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
49 authors at 19 institutions in 2 countries.
Satoko MiyatakeDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0001-7587-5168
Mitsuhiro KatoDepartment of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.ORCID 0000-0003-1485-8553
Takuma KumamotoDevelopmental Neuroscience Project, Department of Brain & Neurosciences, Tokyo Metropolitan Institute of Medical Science, Tokyo 156-8506, Japan.ORCID 0000-0002-2326-0783
Tomonori HiroseDepartment of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0003-2428-0919
Eriko KoshimizuDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Takaaki MatsuiGene Regulation Research, Nara Institute of Science and Technology, Ikoma, Nara 630-0101, Japan.ORCID 0000-0002-5502-2288
Hideyuki TakeuchiDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0001-5912-7581
Hiroshi DoiDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0001-5807-2523
Keisuke HamadaDepartment of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0002-8181-9266
Mitsuko NakashimaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0001-7941-1774
Kazunori SasakiDepartment of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Akio YamashitaDepartment of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Atsushi TakataDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0002-0928-4586
Kohei HamanakaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Mai SatohDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Takabumi MiyamaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Yuri SonodaDepartment of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan.ORCID 0000-0003-4604-2284
Momoko SasazukiDepartment of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan.
Hiroyuki TorisuDepartment of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan.ORCID 0000-0002-2791-4756
Toshiro HaraDepartment of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan.ORCID 0000-0002-7686-0379
Yasunari SakaiDepartment of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan.ORCID 0000-0002-5747-8692
Yushi NoguchiDivision of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.ORCID 0000-0003-0057-8606
Mazumi MiuraDivision of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.ORCID 0000-0002-8259-1814
Yoko NishimuraDivision of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan.ORCID 0000-0002-2946-498X
Kazuyuki NakamuraDepartment of Pediatrics, Yamagata University Faculty of Medicine, Yamagata 990-9585, Japan.ORCID 0000-0003-0266-9341
Hideyuki AsaiDepartment of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.
Nodoka HinokumaDepartment of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.ORCID 0000-0002-4658-529X
Fuyuki MiyaDepartment of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 113-8510, Japan.ORCID 0000-0001-6758-2015
Tatsuhiko TsunodaDepartment of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 113-8510, Japan.ORCID 0000-0002-5439-7918
Masami TogawaDepartment of Pediatrics, Tottori Prefectural Central Hospital, Tottori 680-0901, Japan.ORCID 0000-0002-9002-2507
Yukihiro IkedaDepartment of Neonatology, Japanese Red Cross Otsu Hospital, Otsu, Shiga 520-8511, Japan.
Nobusuke KimuraDepartment of Pediatrics, Naniwa Ikuno Hospital, Osaka, Shiga 556-0014, Japan.
Kaoru AmemiyaDepartment of Pediatrics, Saiwai Kodomo Clinic, Tachikawa 190-0002, Japan.ORCID 0000-0002-2519-7220
Asako HorinoShizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka 420-8688, Japan.ORCID 0000-0003-0241-3899
Masataka FukuokaShizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka 420-8688, Japan.ORCID 0000-0002-5846-0128
Hiroko IkedaShizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka 420-8688, Japan.ORCID 0000-0002-2412-3940
Goni MerhavRadiology Department, Rambam Health Care Campus, Haifa 3109601, Israel.ORCID 0000-0001-7211-5681
Nina EkhilevitchThe Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel.ORCID 0000-0001-8996-5586
Masaki MiuraDepartment of Pediatrics, Nagaoka Red Cross Hospital, Nagaoka, Niigata 940-2085, Japan.
Takeshi MizuguchiDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0003-4998-1244
Noriko MiyakeDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Atsushi SuzukiMolecular Cellular Biology Laboratory, Yokohama City University Graduate School of Medical Life Science, Yokohama, Kanagawa 236-0004, Japan.
Shouichi OhgaDepartment of Pediatrics, Kyushu University, Fukuoka 812-8582, Japan.ORCID 0000-0002-2426-7792
Hirotomo SaitsuDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0003-0723-0960
Hidehisa TakahashiDepartment of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Fumiaki TanakaDepartment of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0002-9961-2693
Kazuhiro OgataDepartment of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.ORCID 0000-0003-2952-3027
Chiaki Ohtaka-MaruyamaDevelopmental Neuroscience Project, Department of Brain & Neurosciences, Tokyo Metropolitan Institute of Medical Science, Tokyo 156-8506, Japan.ORCID 0000-0002-0632-7341
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan. naomat@yokohama-cu.ac.jp.ORCID 0000-0001-9846-6500
Yokohama City University · JPKyushu University · JPNational Epilepsy Center · JPShowa University · JPNagaoka Red Cross Hospital · JPRambam Health Care Campus · ILShizuoka University · JPTokyo Medical and Dental University · JPTokyo Metropolitan Institute of Medical Science · JPTottori University · JPNara Institute of Science and Technology · JPOsaka Hospital · JPOtsu Red Cross Hospital · JPRIKEN Center for Brain Science · JPTachikawa Hospital · JPTottori Prefectural Central Hospital · JPYamagata University · JPYokohama City University Hospital · JPYokohama City University Medical Center · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
Polymicrogyria is a common malformation of cortical development whose etiology remains elusive. We conducted whole-exome sequencing for 124 patients with polymicrogyria and identified de novo
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